| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.44418482T>A | CA16609462 | HNF4A | c.640T>A (p.Ser214Thr) c.706T>A (p.Ser236Thr) c.680T>A n.682T>A n.1830T>A c.*473T>A (n.*473T>A) c.631T>A (p.Ser211Thr) c.685T>A (p.Ser229Thr) c.823T>A (p.Ser275Thr) c.754T>A (p.Ser252Thr) | ClinVar dbSNP |
| 20 | g.44418482T>G | CA409106952 | HNF4A | c.640T>G (p.Ser214Ala) c.706T>G (p.Ser236Ala) c.680T>G n.682T>G n.1830T>G c.*473T>G (n.*473T>G) c.631T>G (p.Ser211Ala) c.685T>G (p.Ser229Ala) c.823T>G (p.Ser275Ala) c.754T>G (p.Ser252Ala) | ClinVar dbSNP |
| 20 | g.44418482T= | CA2365763702 | HNF4A | c.640T= (p.Ser214=) c.706T= (p.Ser236=) c.680T= n.682T= n.1830T= c.*473T= (n.*473T=) c.631T= (p.Ser211=) c.685T= (p.Ser229=) c.823T= (p.Ser275=) c.754T= (p.Ser252=) | dbSNP |